Canonical Allele Identifier: CA1082999991

Gene:

Linked Data

• dbSNP Id: rs1760950666
• gnomAD v3: 5-152354470-T-C
• gnomAD v4: 5-152354470-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.152354470T>C , CM000667.2:g.152354470T>C	GRCh38
NC_000005.9:g.151734031T>C , CM000667.1:g.151734031T>C	GRCh37
NC_000005.8:g.151714224T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_944433.1:n.196+16607T>C
XR_944433.2:n.197+16607T>C